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Items: 1 to 50 of 118

1.

Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2.

Sanjurjo-Soriano C, Erkilic N, Manes G, Dubois G, Hamel CP, Meunier I, Kalatzis V.

Stem Cell Res. 2018 Dec;33:247-250. doi: 10.1016/j.scr.2018.11.007. Epub 2018 Nov 16.

2.

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa.

Sanjurjo-Soriano C, Erkilic N, Manes G, Dubois G, Hamel CP, Meunier I, Kalatzis V.

Stem Cell Res. 2018 Dec;33:228-232. doi: 10.1016/j.scr.2018.11.004. Epub 2018 Nov 10.

3.

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Vaché C, Torriano S, Faugère V, Erkilic N, Baux D, Garcia-Garcia G, Hamel CP, Meunier I, Zanlonghi X, Koenig M, Kalatzis V, Roux AF.

Hum Mutat. 2019 Jan;40(1):31-35. doi: 10.1002/humu.23671. Epub 2018 Nov 8.

PMID:
30341801
4.

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.

Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ.

Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28.

PMID:
30268864
5.

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.

Torriano S, Erkilic N, Baux D, Cereso N, De Luca V, Meunier I, Moosajee M, Roux AF, Hamel CP, Kalatzis V.

Sci Rep. 2018 May 29;8(1):8234. doi: 10.1038/s41598-018-26481-7.

6.

Reply: The expanding neurological phenotype of DNM1L-related disorders.

Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane S, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G.

Brain. 2018 Apr 1;141(4):e29. doi: 10.1093/brain/awy027. No abstract available.

PMID:
29529130
7.

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Roubertie A, Hieu N, Roux CJ, Leboucq N, Manes G, Charif M, Echenne B, Goizet C, Guissart C, Meyer P, Marelli C, Rivier F, Burglen L, Horvath R, Hamel CP, Lenaers G.

Neurol Genet. 2018 Jan 24;4(1):e217. doi: 10.1212/NXG.0000000000000217. eCollection 2018 Feb.

8.

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.

Sarzi E, Seveno M, Piro-Mégy C, Elzière L, Quilès M, Péquignot M, Müller A, Hamel CP, Lenaers G, Delettre C.

Sci Rep. 2018 Feb 6;8(1):2468. doi: 10.1038/s41598-018-20838-8.

9.

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

Astuti GDN, van den Born LI, Khan MI, Hamel CP, Bocquet B, Manes G, Quinodoz M, Ali M, Toomes C, McKibbin M, El-Asrag ME, Haer-Wigman L, Inglehearn CF, Black GCM, Hoyng CB, Cremers FPM, Roosing S.

Genes (Basel). 2018 Jan 10;9(1). pii: E21. doi: 10.3390/genes9010021.

10.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

11.

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.

Sarzi E, Seveno M, Angebault C, Milea D, Rönnbäck C, Quilès M, Adrian M, Grenier J, Caignard A, Lacroux A, Lavergne C, Reynier P, Larsen M, Hamel CP, Delettre C, Lenaers G, Müller A.

Hum Mol Genet. 2017 Dec 1;26(23):4764. doi: 10.1093/hmg/ddx376. No abstract available.

PMID:
29045675
12.

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.

Manes G, Joly W, Guignard T, Smirnov V, Berthemy S, Bocquet B, Audo I, Zeitz C, Sahel J, Cazevieille C, Sénéchal A, Deleuze JF, Blanché-Koch H, Boland A, Carroll P, Geneviève D, Zanlonghi X, Arndt C, Hamel CP, Defoort-Dhellemmes S, Meunier I.

Hum Mol Genet. 2017 Nov 15;26(22):4367-4374. doi: 10.1093/hmg/ddx322.

13.

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G.

Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219.

PMID:
28969390
14.

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.

Torriano S, Erkilic N, Faugère V, Damodar K, Hamel CP, Roux AF, Kalatzis V.

Hum Mol Genet. 2017 Sep 15;26(18):3573-3584. doi: 10.1093/hmg/ddx244.

PMID:
28911202
15.

Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retina.

Cubizolle A, Guillou L, Mollereau B, Hamel CP, Brabet P.

PLoS One. 2017 Jul 3;12(7):e0180148. doi: 10.1371/journal.pone.0180148. eCollection 2017.

16.

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.

Manes G, Mamouni S, Hérald E, Richard AC, Sénéchal A, Aouad K, Bocquet B, Meunier I, Hamel CP.

Mol Vis. 2017 Apr 3;23:198-209. eCollection 2017.

17.

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.

Dias MS, Hamel CP, Meunier I, Varin J, Blanchard S, Boyard F, Sahel JA, Zeitz C.

Mol Vis. 2017 Mar 18;23:131-139. eCollection 2017.

18.

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.

Neuillé M, Cao Y, Caplette R, Guerrero-Given D, Thomas C, Kamasawa N, Sahel JA, Hamel CP, Audo I, Picaud S, Martemyanov KA, Zeitz C.

Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1768-1778. doi: 10.1167/iovs.16-20745.

19.

Pattern dystrophy in a female carrier of RP2 mutation.

Misky D, Guillaumie T, Baudoin C, Bocquet B, Beltran M, Kaplan J, Dhaenens CM, Bonnefont JP, Meunier I, Hamel CP.

Ophthalmic Genet. 2016 Dec;37(4):453-455. Epub 2016 Feb 17. No abstract available.

PMID:
26885761
20.

Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism.

Goldman-Levy G, de la Fouchardiere A, Hamel CP, Lasseaux E, Yordanova Y, Guillot B, Bessis D, Pernet C, Frouin E, Boulle N, Haddad V, Pissaloux D, Costes V, Arveiler B, Rigau V.

Eur J Dermatol. 2016 Oct 1;26(5):496-498. No abstract available.

PMID:
27344970
21.

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.

Meunier I, Bocquet B, Labesse G, Zeitz C, Defoort-Dhellemmes S, Lacroux A, Mauget-Faysse M, Drumare I, Gamez AS, Mathieu C, Marquette V, Sagot L, Dhaenens CM, Arndt C, Carroll P, Remy-Jardin M, Cohen SY, Sahel JA, Puech B, Audo I, Mrejen S, Hamel CP.

Sci Rep. 2016 Sep 7;6:32544. doi: 10.1038/srep32544.

22.

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E.

Am J Hum Genet. 2016 Aug 4;99(2):470-80. doi: 10.1016/j.ajhg.2016.06.017.

23.

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.

Jean-Charles A, Merle H, Audo I, Desoudin C, Bocquet B, Baudoin C, Sidibe M, Mauget-Faÿsse M, Wolff B, Fichard A, Lenaers G, Sahel JA, Gaudric A, Cohen SY, Hamel CP, Meunier I.

Ophthalmology. 2016 Oct;123(10):2196-204. doi: 10.1016/j.ophtha.2016.06.028. Epub 2016 Jul 26.

PMID:
27474146
24.

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Grenier J, Meunier I, Daien V, Baudoin C, Halloy F, Bocquet B, Blanchet C, Delettre C, Esmenjaud E, Roubertie A, Lenaers G, Hamel CP.

Ophthalmology. 2016 Sep;123(9):1989-98. doi: 10.1016/j.ophtha.2016.05.036. Epub 2016 Jul 7.

PMID:
27395765
25.

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B.

Sci Rep. 2016 Jun 24;6:28253. doi: 10.1038/srep28253.

26.

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.

Sarzi E, Seveno M, Angebault C, Milea D, Rönnbäck C, Quilès M, Adrian M, Grenier J, Caignard A, Lacroux A, Lavergne C, Reynier P, Larsen M, Hamel CP, Delettre C, Lenaers G, Müller A.

Hum Mol Genet. 2016 Jun 15;25(12):2539-2551. Epub 2016 Jun 3. Erratum in: Hum Mol Genet. 2017 Dec 1;26(23):4764.

PMID:
27260406
27.

LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.

Perez-Roustit S, Marquette V, Bocquet B, Kaplan J, Perrault I, Meunier I, Hamel CP.

Retin Cases Brief Rep. 2017 Summer;11(3):221-226. doi: 10.1097/ICB.0000000000000326.

PMID:
27203561
28.

Phloroglucinol protects retinal pigment epithelium and photoreceptor against all-trans-retinal-induced toxicity and inhibits A2E formation.

Cia D, Cubizolle A, Crauste C, Jacquemot N, Guillou L, Vigor C, Angebault C, Hamel CP, Vercauteren J, Brabet P.

J Cell Mol Med. 2016 Sep;20(9):1651-63. doi: 10.1111/jcmm.12857. Epub 2016 Apr 12.

29.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E.

Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7.

30.

Clinical Evaluation and Cone Alterations in Choroideremia.

Nabholz N, Lorenzini MC, Bocquet B, Lacroux A, Faugère V, Roux AF, Kalatzis V, Meunier I, Hamel CP.

Ophthalmology. 2016 Aug;123(8):1830-1832. doi: 10.1016/j.ophtha.2016.02.025. Epub 2016 Mar 15. No abstract available.

PMID:
26992839
31.

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsányi B, Weleber RG, Wissinger B.

PLoS One. 2016 Jan 14;11(1):e0145951. doi: 10.1371/journal.pone.0145951. eCollection 2016.

32.

A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.

Meunier I, Lenaers G, Bocquet B, Baudoin C, Piro-Megy C, Cubizolle A, Quilès M, Jean-Charles A, Cohen SY, Merle H, Gaudric A, Labesse G, Manes G, Péquignot M, Cazevieille C, Dhaenens CM, Fichard A, Ronkina N, Arthur SJ, Gaestel M, Hamel CP.

Hum Mol Genet. 2016 Mar 1;25(5):916-26. doi: 10.1093/hmg/ddv624. Epub 2016 Jan 6.

PMID:
26744326
33.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G.

Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Erratum in: Am J Hum Genet. 2015 Nov 5;97(5):769.

34.

Optic Atrophy Type 1.

Delettre-Cribaillet C, Hamel CP, Lenaers G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Jul 13 [updated 2015 Nov 12].

35.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Charif M, Roubertie A, Salime S, Mamouni S, Goizet C, Hamel CP, Lenaers G.

Front Genet. 2015 Oct 19;6:311. doi: 10.3389/fgene.2015.00311. eCollection 2015.

36.

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, Mousson de Camaret B, Lenaers G, Hamel CP.

Am J Med Genet A. 2015 Oct;167A(10):2366-74. doi: 10.1002/ajmg.a.37188. Epub 2015 Jun 10.

PMID:
26061759
37.

[Genetic ocular diseases].

Hamel CP.

Rev Prat. 2015 Apr;65(4):467-70. French.

PMID:
26058181
38.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ.

Am J Ophthalmol. 2015 Aug;160(2):364-372.e1. doi: 10.1016/j.ajo.2015.05.007. Epub 2015 May 15.

PMID:
25982971
39.

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A.

Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21.

PMID:
25901006
40.

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

Chassine T, Bocquet B, Daien V, Avila-Fernandez A, Ayuso C, Collin RW, Corton M, Hejtmancik JF, van den Born LI, Klevering BJ, Riazuddin SA, Sendon N, Lacroux A, Meunier I, Hamel CP.

Br J Ophthalmol. 2015 Oct;99(10):1360-5. doi: 10.1136/bjophthalmol-2014-306224. Epub 2015 Apr 16.

PMID:
25883087
41.

How can we prevent myopia progression?

Chassine T, Villain M, Hamel CP, Daien V.

Eur J Ophthalmol. 2015 Jul-Aug;25(4):280-5. doi: 10.5301/ejo.5000571. Epub 2015 Feb 3. Review.

PMID:
25655598
42.

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

Roubertie A, Leboucq N, Picot MC, Nogue E, Brunel H, Le Bars E, Manes G, Angebault Prouteau C, Blanchet C, Mondain M, Chevassus H, Amati-Bonneau P, Sarzi E, Pagès M, Villain M, Meunier I, Lenaers G, Hamel CP.

J Neurol Sci. 2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13.

PMID:
25641387
43.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP.

Am J Ophthalmol. 2015 Feb;159(2):302-14. doi: 10.1016/j.ajo.2014.10.033. Epub 2014 Nov 5.

44.

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

Meunier I, Manes G, Bocquet B, Marquette V, Baudoin C, Puech B, Defoort-Dhellemmes S, Audo I, Verdet R, Arndt C, Zanlonghi X, Le Meur G, Dhaenens CM, Hamel CP.

Ophthalmology. 2014 Dec;121(12):2406-14. doi: 10.1016/j.ophtha.2014.06.028. Epub 2014 Jul 29.

PMID:
25085631
45.

A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.

Manes G, Cheguru P, Majumder A, Bocquet B, Sénéchal A, Artemyev NO, Hamel CP, Brabet P.

PLoS One. 2014 Apr 23;9(4):e95768. doi: 10.1371/journal.pone.0095768. eCollection 2014.

46.

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP.

J Med Genet. 2014 Jul;51(7):444-8. doi: 10.1136/jmedgenet-2014-102316. Epub 2014 Apr 15.

PMID:
24737827
47.

Gene discovery and prevalence in inherited retinal dystrophies.

Hamel CP.

C R Biol. 2014 Mar;337(3):160-6. doi: 10.1016/j.crvi.2013.12.001. Epub 2014 Mar 4.

PMID:
24702842
48.

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient.

Cereso N, Pequignot MO, Robert L, Becker F, De Luca V, Nabholz N, Rigau V, De Vos J, Hamel CP, Kalatzis V.

Mol Ther Methods Clin Dev. 2014 Apr 2;1:14011. doi: 10.1038/mtm.2014.11. eCollection 2014.

49.

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.

Bocquet B, Marzouka NA, Hebrard M, Manes G, Sénéchal A, Meunier I, Hamel CP.

Mol Vis. 2013 Dec 8;19:2487-500. eCollection 2013.

50.

[Inherited retinal dystrophies: contributions of molecular genetics].

Hamel CP.

Biol Aujourdhui. 2013;207(2):73-85. doi: 10.1051/jbio/2013007. Epub 2013 Oct 10. Review. French.

PMID:
24103338

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